ODCs

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Hypocalcemic vitamin D-resistant rickets

2 OMIM references -
1 associated gene
29 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Hypothyroidism due to deficient transcription factors involved in pituitary development or function

5 associated genes
17 signs/symptoms

Hypocalcemic vitamin D-resistant rickets

Hypothyroidism due to deficient transcription factors involved in pituitary development or function

VDR	(UniProt - OMIM)	HESX1	(UniProt - OMIM)
		LHX3	(UniProt - OMIM)
		LHX4	(UniProt - OMIM)
		POU1F1	(UniProt - OMIM)
		PROP1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	VDR	(0.75)	POU1F1

Citations in the biomedical literature:

Hypocalcemic vitamin D-resistant rickets		Hypothyroidism due to deficient transcription factors involved in pituitary development or function
	Synonym(s): - HVDRR - Hereditary vitamin D-resistant rickets - VDDR II - VDRR II - Vitamin D-dependent rickets type II - Vitamin D-resistant rickets type II		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease		Classification (Orphanet): - Rare endocrine disease - Rare genetic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: (no data available)

	External references: 2 OMIM references - No MeSH references		External references: No OMIM references No MeSH references


COMMON SIGNS	- Short stature / dwarfism / nanism

Hypocalcemic vitamin D-resistant rickets		Hypothyroidism due to deficient transcription factors involved in pituitary development or function
	Very frequent - Anomalies of bones / skeletal anomalies - Autosomal recessive inheritance - Bone cyst - Bone pain - Hyperparathyroidy - Hypocalcemia - Hypophosphatemia - Joint / articular deformation - Mutiple fractures / bone fragility - Osteolysis / osteoclasia / bone destruction / erosions - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Rough trabeculation of bone Frequent - Abnormal fat distribution / lipodystrophy - Abnormal gait - Abnormal vertebral size / shape - Alopecia - Anomalies of chest / thorax / trunk - Anomalies of skin, subcutaneous tissue and mucosae - Dolichocephaly / scaphocephaly - Genu varum - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Metaphyseal anomaly - Premature lost of decidious teeth - Urinary / renal lithiasis / kidney stones / nephritic colic Occasional - Anomalies of teeth and dentition - Frontal bossing / prominent forehead - Genu valgum - Scoliosis		Very frequent - Absent / hypotonic / flaccid abdominal wall muscles - Asthenia / fatigue / weakness - Coarse face - Constipation - Face / facial anomalies - Failure to thrive / difficulties for feeding in infancy / growth delay - Hepatitis / icterus / cholestasis - Hypothyroidy - Hypotonia - Large fontanelle / delayed fontanelle closure - Sleep and vigilance disorders - Umbilical hernia Frequent - Cleft lip and palate - Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism - Intellectual deficit / mental / psychomotor retardation / learning disability - Septo-optic dysplasia